All individuals with variants in gene RNASEH2B

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

78 entries on 1 page. Showing entries 1 - 78.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00057265	-	PubMed: Rump 2016	-	F	yes	-	-	-	-	-	-	AGS2	Microcephaly HP:0000252	2	1	Birgit Sikkema-Raddatz
00058705	16845400-F1	PubMed: Crow 2006	-	-	yes	Morocco	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058706	16845400-F3	PubMed: Crow 2006	-	-	yes	Italy	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058707	16845400-F4	PubMed: Crow 2006	-	-	yes	Algeria	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058708	16845400-F11	PubMed: Crow 2006	-	-	no	Algeria;Tunisia	-	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058709	16845400-F19	PubMed: Crow 2006	-	-	no	Italy	-	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058710	16845400-F17	PubMed: Crow 2006	-	-	no	United States	European	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058711	16845400-F18	PubMed: Crow 2006	-	-	no	United States	European	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058712	16845400-F21	PubMed: Crow 2006	-	-	no	Canada;Hungary	-	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058713	-	{PMID20131292:Ramantani 2010}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058714	-	{PMID20131292:Ramantani 2010}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058715	-	{PMID17846997:Rice 2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058716	-	{PMID17846997:Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058717	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058718	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058719	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058720	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058721	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058722	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058723	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058724	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058725	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058726	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058727	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058728	-	{PMID17846997: Rice2007}	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058729	-	PubMed: Rice 2007	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00058768	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	10	Lampros Mavrogiannis
00058769	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058770	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058771	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058772	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	2	Lampros Mavrogiannis
00058773	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058774	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058775	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058776	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058777	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058778	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058779	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	2	1	Lampros Mavrogiannis
00058780	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	1	3	Lampros Mavrogiannis
00058781	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Lampros Mavrogiannis
00058782	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	1	1	Lampros Mavrogiannis
00058783	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	1	4	Lampros Mavrogiannis
00058784	-	Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished	-	-	-	-	-	-	-	-	-	AGS	-	1	3	Lampros Mavrogiannis
00058802	-	Prof. YJ Crow, Univ Manchester, unpublished	-	-	-	-	Argentina	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058803	-	Prof. YJ Crow, Univ Manchester, unpublished	-	-	-	-	Spanish	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058806	-	{PMID17846997:Rice 2007}	-	-	-	-	Hungarian	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058807	-	{PMID17846997:Rice 2007}	-	-	-	-	French	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058808	-	Prof. YJ Crow, Univ Manchester, unpublished	-	-	-	-	German	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058809	-	Prof. YJ Crow, Univ Manchester, unpublished	-	-	-	-	German	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058810	-	-	-	-	-	-	German	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058811	-	{PMID17846997:Rice 2007}	-	-	-	-	Unknown	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058812	-	{PMID17846997:Rice 2007}	-	-	-	-	Unknown	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058813	-	{PMID17846997:Rice 2007}	-	-	-	-	Italian	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058814	-	{PMID17846997:Rice 2007}	-	-	-	-	Spanish	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058815	-	{PMID17846997:Rice 2007}	-	-	-	-	Spanish	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058816	-	{PMID17846997:Rice 2007}	-	-	-	-	Spanish	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058817	-	{PMID17846997:Rice 2007}	-	-	-	-	Unknown	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058818	-	{PMID17846997:Rice 2007}	-	-	-	-	English	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058819	-	{PMID17846997:Rice 2007}	-	-	-	-	Unknown	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00058820	-	{PMID17846997:Rice 2007}	-	-	-	-	Egyptian	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00104041	Vogelaar-780A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00208212	16845400-F5	PubMed: Crow 2006	-	-	yes	Morocco	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00208213	16845400-F8	PubMed: Crow 2006	-	-	no	Italy	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00208214	16845400-F9	PubMed: Crow 2006	-	-	yes	Ireland	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00208215	16845400-F10	PubMed: Crow 2006	-	-	no	Morocco	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00208216	16845400-F12	PubMed: Crow 2006	-	-	no	Italy	-	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00208217	16845400-F13	PubMed: Crow 2006	-	-	no	Italy	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00208218	16845400-F14	PubMed: Crow 2006	-	-	no	Canada	French Canadian	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00208219	16845400-F15	PubMed: Crow 2006	-	-	no	United Kingdom (Great Britain)	-	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00208220	16845400-F16	PubMed: Crow 2006	-	-	no	Germany	-	-	-	-	-	AGS	-	1	1	Johan den Dunnen
00208221	16845400-F20	PubMed: Crow 2006	-	-	no	Italy	-	-	-	-	-	AGS	-	2	1	Johan den Dunnen
00308027	Pat6	PubMed: Mahler 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	no	Germany	-	-	-	-	-	?	severe global developmental delay, spastic tetraplegic cerebral palsy, microcephaly	1	1	Johan den Dunnen
00372066	178532	-	-	M	?	-	Spanish-Russian	-	-	-	-	AGS2	HPOTerms: (+) Motor delay,(+) Limb hypertonia,(+) Muscular hypotonia of the trunk,(+) Abnormal CNS myelination,(+) Abnormal myelination // 18 months old, motor developmental delay, unable to sit freely, muscular trunk hypotonia, increased muscle tone of the extremities, increased muscular reflexes, cMRI: myelinisation disorder in the region of the medullary canal, in the internal capsule and in the U-fibres on both sides, temporopolar, social development so far unremarkable	2	1	Andreas Laner
00380767	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	AGS2	Neurological regression (Neurological)	1	1	LOVD
00415272	27	PubMed: Alfares 2018	-	M	-	-	-	-	-	-	-	retinal disease	OMIM: 610181; developmental regression, myoclonic epilepsy, and basal ganglia calcification in ct scan of the brain	1	1	LOVD
00416853	26	PubMed: Rump 2016	-	F	-	-	-	-	-	-	-	AGS2	brain magnetic resonance imaging: multiple intra cerebral calcifications on ct-scan; additional clinical featuresfeeding problems, short stature, seizures, spasticity, severe developmental delay	2	1	LOVD
00440436	PED2336.4	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00455782	Pat22	PubMed: Salinas 2020	patient	M	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

RNASEH2B (ribonuclease H2, subunit B)